UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.151822630C>A | CA2676107386 | GLRA1 | c.*43G>T (n.*43G>T) c.*1151G>T (n.*1151G>T) | gnomAD v4 |
| 5 | g.151822630C>T | CA2578460258 | GLRA1 | c.*43G>A (n.*43G>A) c.*1151G>A (n.*1151G>A) | |
| 5 | g.151822631C= | CA1591565148 | GLRA1 | c.*42G= (n.*42G=) c.*1150G= (n.*1150G=) | |
| 5 | g.151822631C>T | CA130005990 | GLRA1 | c.*42G>A (n.*42G>A) c.*1150G>A (n.*1150G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822632C>A | CA2768928589 | GLRA1 | c.*41G>T (n.*41G>T) c.*1149G>T (n.*1149G>T) | |
| 5 | g.151822632C= | CA1591565149 | GLRA1 | c.*41G= (n.*41G=) c.*1149G= (n.*1149G=) | |
| 5 | g.151822632C>T | CA563632940 | GLRA1 | c.*41G>A (n.*41G>A) c.*1149G>A (n.*1149G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822633dup | CA2676107387 | GLRA1 | c.*40dup (n.*40dup) c.*1148dup (n.*1148dup) | gnomAD v4 |
| 5 | g.151822634C>A | CA2768928590 | GLRA1 | c.*39G>T (n.*39G>T) c.*1147G>T (n.*1147G>T) | |
| 5 | g.151822634C= | CA1591565150 | GLRA1 | c.*39G= (n.*39G=) c.*1147G= (n.*1147G=) | |
| 5 | g.151822634C>T | CA3523440 | GLRA1 | c.*39G>A (n.*39G>A) c.*1147G>A (n.*1147G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822635G>A | CA3523441 | GLRA1 | c.*38C>T (n.*38C>T) c.*1146C>T (n.*1146C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822635G= | CA1591565151 | GLRA1 | c.*38C= (n.*38C=) c.*1146C= (n.*1146C=) | |
| 5 | g.151822635G>T | CA563632945 | GLRA1 | c.*38C>A (n.*38C>A) c.*1146C>A (n.*1146C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822636T>A | CA1591565153 | GLRA1 | c.*37A>T (n.*37A>T) c.*1145A>T (n.*1145A>T) | dbSNP |
| 5 | g.151822636T>C | CA2676107388 | GLRA1 | c.*37A>G (n.*37A>G) c.*1145A>G (n.*1145A>G) | gnomAD v4 |
| 5 | g.151822636T= | CA1591565152 | GLRA1 | c.*37A= (n.*37A=) c.*1145A= (n.*1145A=) | |
| 5 | g.151822638C>A | CA2676107391 | GLRA1 | c.*35G>T (n.*35G>T) c.*1143G>T (n.*1143G>T) | gnomAD v4 |
| 5 | g.151822638C= | CA1591565154 | GLRA1 | c.*35G= (n.*35G=) c.*1143G= (n.*1143G=) | |
| 5 | g.151822638C>G | CA1591565155 | GLRA1 | c.*35G>C (n.*35G>C) c.*1143G>C (n.*1143G>C) | dbSNP |
| 5 | g.151822638C>T | CA2676107389 | GLRA1 | c.*35G>A (n.*35G>A) c.*1143G>A (n.*1143G>A) | gnomAD v4 |
| 5 | g.151822641del | CA2676107390 | GLRA1 | c.*35del (n.*35del) c.*1143del (n.*1143del) | gnomAD v4 |
| 5 | g.151822639C= | CA1591565156 | GLRA1 | c.*34G= (n.*34G=) c.*1142G= (n.*1142G=) | |
| 5 | g.151822639C>G | CA3523442 | GLRA1 | c.*34G>C (n.*34G>C) c.*1142G>C (n.*1142G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822639C>T | CA2578460259 | GLRA1 | c.*34G>A (n.*34G>A) c.*1142G>A (n.*1142G>A) | gnomAD v4 |
| 5 | g.151822640C>A | CA2676107393 | GLRA1 | c.*33G>T (n.*33G>T) c.*1141G>T (n.*1141G>T) | gnomAD v4 |
| 5 | g.151822640C= | CA1591565157 | GLRA1 | c.*33G= (n.*33G=) c.*1141G= (n.*1141G=) | |
| 5 | g.151822640C>T | CA3523443 | GLRA1 | c.*33G>A (n.*33G>A) c.*1141G>A (n.*1141G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822644_151822653del | CA2676107392 | GLRA1 | c.*24_*33del (n.*24_*33del) c.*1132_*1141del (n.*1132_*1141del) | gnomAD v4 |
| 5 | g.151822641C>T | CA2676107394 | GLRA1 | c.*32G>A (n.*32G>A) c.*1140G>A (n.*1140G>A) | gnomAD v4 |
| 5 | g.151822642T>C | CA2676107395 | GLRA1 | c.*31A>G (n.*31A>G) c.*1139A>G (n.*1139A>G) | gnomAD v4 |
| 5 | g.151822643C>T | CA2768928592 | GLRA1 | c.*30G>A (n.*30G>A) c.*1138G>A (n.*1138G>A) | |
| 5 | g.151822644T>A | CA2676107396 | GLRA1 | c.*29A>T (n.*29A>T) c.*1137A>T (n.*1137A>T) | gnomAD v4 |
| 5 | g.151822644T>C | CA2676107397 | GLRA1 | c.*29A>G (n.*29A>G) c.*1137A>G (n.*1137A>G) | gnomAD v4 |
| 5 | g.151822645C= | CA1591565158 | GLRA1 | c.*28G= (n.*28G=) c.*1136G= (n.*1136G=) | |
| 5 | g.151822645C>T | CA563632947 | GLRA1 | c.*28G>A (n.*28G>A) c.*1136G>A (n.*1136G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822649_151822658del | CA2676107398 | GLRA1 | c.*19_*28del (n.*19_*28del) c.*1127_*1136del (n.*1127_*1136del) | gnomAD v4 |
| 5 | g.151822646C>A | CA2578460260 | GLRA1 | c.*27G>T (n.*27G>T) c.*1135G>T (n.*1135G>T) | gnomAD v4 |
| 5 | g.151822646C>T | CA2676107399 | GLRA1 | c.*27G>A (n.*27G>A) c.*1135G>A (n.*1135G>A) | gnomAD v4 |
| 5 | g.151822647C= | CA1591565159 | GLRA1 | c.*26G= (n.*26G=) c.*1134G= (n.*1134G=) | |
| 5 | g.151822647C>T | CA805721635 | GLRA1 | c.*26G>A (n.*26G>A) c.*1134G>A (n.*1134G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822648A>G | CA2676107400 | GLRA1 | c.*25T>C (n.*25T>C) c.*1133T>C (n.*1133T>C) | gnomAD v4 |
| 5 | g.151822649del | CA2578460262 | GLRA1 | c.*24del (n.*24del) c.*1132del (n.*1132del) | |
| 5 | g.151822649G>A | CA2676107401 | GLRA1 | c.*24C>T (n.*24C>T) c.*1132C>T (n.*1132C>T) | gnomAD v4 |
| 5 | g.151822649G>C | CA563632948 | GLRA1 | c.*24C>G (n.*24C>G) c.*1132C>G (n.*1132C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822649G= | CA1591565160 | GLRA1 | c.*24C= (n.*24C=) c.*1132C= (n.*1132C=) | |
| 5 | g.151822649G>T | CA2578460263 | GLRA1 | c.*24C>A (n.*24C>A) c.*1132C>A (n.*1132C>A) | gnomAD v4 |
| 5 | g.151822650C= | CA1591565161 | GLRA1 | c.*23G= (n.*23G=) c.*1131G= (n.*1131G=) | |
| 5 | g.151822650C>T | CA563632949 | GLRA1 | c.*23G>A (n.*23G>A) c.*1131G>A (n.*1131G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822651C>T | CA2676107402 | GLRA1 | c.*22G>A (n.*22G>A) c.*1130G>A (n.*1130G>A) | gnomAD v4 |
| 5 | g.151822652T>C | CA2676107403 | GLRA1 | c.*21A>G (n.*21A>G) c.*1129A>G (n.*1129A>G) | gnomAD v4 |
| 5 | g.151822653C>A | CA563632950 | GLRA1 | c.*20G>T (n.*20G>T) c.*1128G>T (n.*1128G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822653C= | CA1591565162 | GLRA1 | c.*20G= (n.*20G=) c.*1128G= (n.*1128G=) | |
| 5 | g.151822653C>T | CA2578460265 | GLRA1 | c.*20G>A (n.*20G>A) c.*1128G>A (n.*1128G>A) | gnomAD v4 |
| 5 | g.151822657del | CA2578460264 | GLRA1 | c.*20del (n.*20del) c.*1128del (n.*1128del) | gnomAD v4 |
| 5 | g.151822654C>A | CA2676107404 | GLRA1 | c.*19G>T (n.*19G>T) c.*1127G>T (n.*1127G>T) | gnomAD v4 |
| 5 | g.151822654C= | CA1591565163 | GLRA1 | c.*19G= (n.*19G=) c.*1127G= (n.*1127G=) | |
| 5 | g.151822654C>T | CA805721644 | GLRA1 | c.*19G>A (n.*19G>A) c.*1127G>A (n.*1127G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822655C>A | CA2676107405 | GLRA1 | c.*18G>T (n.*18G>T) c.*1126G>T (n.*1126G>T) | gnomAD v4 |
| 5 | g.151822655C= | CA1591565164 | GLRA1 | c.*18G= (n.*18G=) c.*1126G= (n.*1126G=) | |
| 5 | g.151822655C>G | CA3523444 | GLRA1 | c.*18G>C (n.*18G>C) c.*1126G>C (n.*1126G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822655C>T | CA2578460266 | GLRA1 | c.*18G>A (n.*18G>A) c.*1126G>A (n.*1126G>A) | |
| 5 | g.151822656C>A | CA2676107406 | GLRA1 | c.*17G>T (n.*17G>T) c.*1125G>T (n.*1125G>T) | gnomAD v4 |
| 5 | g.151822656C= | CA1591565165 | GLRA1 | c.*17G= (n.*17G=) c.*1125G= (n.*1125G=) | |
| 5 | g.151822656C>G | CA805721646 | GLRA1 | c.*17G>C (n.*17G>C) c.*1125G>C (n.*1125G>C) | dbSNP gnomAD v4 |
| 5 | g.151822656C>T | CA1591565166 | GLRA1 | c.*17G>A (n.*17G>A) c.*1125G>A (n.*1125G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822657C>A | CA2676107407 | GLRA1 | c.*16G>T (n.*16G>T) c.*1124G>T (n.*1124G>T) | gnomAD v4 |
| 5 | g.151822659A>G | CA2676107408 | GLRA1 | c.*14T>C (n.*14T>C) c.*1122T>C (n.*1122T>C) | gnomAD v4 |
| 5 | g.151822660C= | CA1591565167 | GLRA1 | c.*13G= (n.*13G=) c.*1121G= (n.*1121G=) | |
| 5 | g.151822660C>T | CA3523445 | GLRA1 | c.*13G>A (n.*13G>A) c.*1121G>A (n.*1121G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822661C= | CA1591565168 | GLRA1 | c.*12G= (n.*12G=) c.*1120G= (n.*1120G=) | |
| 5 | g.151822661C>G | CA130006065 | GLRA1 | c.*12G>C (n.*12G>C) c.*1120G>C (n.*1120G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822664dup | CA3523446 | GLRA1 | c.*11dup (n.*11dup) c.*1119dup (n.*1119dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822665C= | CA1591565169 | GLRA1 | c.*8G= (n.*8G=) c.*1116G= (n.*1116G=) | |
| 5 | g.151822665C>G | CA3523447 | GLRA1 | c.*8G>C (n.*8G>C) c.*1116G>C (n.*1116G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822667G>A | CA563632951 | GLRA1 | c.*6C>T (n.*6C>T) c.*1114C>T (n.*1114C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822667G= | CA1591565170 | GLRA1 | c.*6C= (n.*6C=) c.*1114C= (n.*1114C=) | |
| 5 | g.151822667G>T | CA2676107409 | GLRA1 | c.*6C>A (n.*6C>A) c.*1114C>A (n.*1114C>A) | gnomAD v4 |
| 5 | g.151822668A= | CA1591565171 | GLRA1 | c.*5T= (n.*5T=) c.*1113T= (n.*1113T=) | |
| 5 | g.151822668A>T | CA3523448 | GLRA1 | c.*5T>A (n.*5T>A) c.*1113T>A (n.*1113T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822669C= | CA1591565172 | GLRA1 | c.*4G= (n.*4G=) c.*1112G= (n.*1112G=) | |
| 5 | g.151822669C>T | CA3523449 | GLRA1 | c.*4G>A (n.*4G>A) c.*1112G>A (n.*1112G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822670C= | CA1591565173 | GLRA1 | c.*3G= (n.*3G=) c.*1111G= (n.*1111G=) | |
| 5 | g.151822670C>T | CA563632952 | GLRA1 | c.*3G>A (n.*3G>A) c.*1111G>A (n.*1111G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822671C>A | CA2676107410 | GLRA1 | c.*2G>T (n.*2G>T) c.*1110G>T (n.*1110G>T) | gnomAD v4 |
| 5 | g.151822671C= | CA1591565174 | GLRA1 | c.*2G= (n.*2G=) c.*1110G= (n.*1110G=) | |
| 5 | g.151822671C>T | CA563632954 | GLRA1 | c.*2G>A (n.*2G>A) c.*1110G>A (n.*1110G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822673T>A | CA361849454 | GLRA1 | c.1350A>T (p.Ter450Cys) c.1374A>T (p.Ter458Cys) c.*1108A>T (n.*1108A>T) c.1101A>T (p.Ter367Cys) | |
| 5 | g.151822673T>C | CA361849456 | GLRA1 | c.1350A>G (p.Ter450Trp) c.1374A>G (p.Ter458Trp) c.*1108A>G (n.*1108A>G) c.1101A>G (p.Ter367Trp) | |
| 5 | g.151822673T>G | CA361849458 | GLRA1 | c.1350A>C (p.Ter450Cys) c.1374A>C (p.Ter458Cys) c.*1108A>C (n.*1108A>C) c.1101A>C (p.Ter367Cys) | |
| 5 | g.151822674C>A | CA361849461 | GLRA1 | c.1349G>T (p.Ter450Leu) c.1373G>T (p.Ter458Leu) c.*1107G>T (n.*1107G>T) c.1100G>T (p.Ter367Leu) | |
| 5 | g.151822674C>G | CA361849463 | GLRA1 | c.1349G>C (p.Ter450Ser) c.1373G>C (p.Ter458Ser) c.*1107G>C (n.*1107G>C) c.1100G>C (p.Ter367Ser) | |
| 5 | g.151822674C>T | CA447226509 | GLRA1 | c.1349G>A (p.Ter450=) c.1373G>A (p.Ter458=) c.*1107G>A (n.*1107G>A) c.1100G>A (p.Ter367=) | gnomAD v4 |
| 5 | g.151822675A= | CA1591565175 | GLRA1 | c.1348T= (p.Ter450=) c.1372T= (p.Ter458=) c.*1106T= (n.*1106T=) c.1099T= (p.Ter367=) | |
| 5 | g.151822675A>C | CA361849469 | GLRA1 | c.1348T>G (p.Ter450Gly) c.1372T>G (p.Ter458Gly) c.*1106T>G (n.*1106T>G) c.1099T>G (p.Ter367Gly) | gnomAD v4 |
| 5 | g.151822675A>G | CA361849472 | GLRA1 | c.1348T>C (p.Ter450Arg) c.1372T>C (p.Ter458Arg) c.*1106T>C (n.*1106T>C) c.1099T>C (p.Ter367Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822675A>T | CA361849467 | GLRA1 | c.1348T>A (p.Ter450Arg) c.1372T>A (p.Ter458Arg) c.*1106T>A (n.*1106T>A) c.1099T>A (p.Ter367Arg) | gnomAD v4 |
| 5 | g.151822676C>A | CA361849478 | GLRA1 | c.1347G>T (p.Gln449His) c.1371G>T (p.Gln457His) c.*1105G>T (n.*1105G>T) c.1098G>T (p.Gln366His) | dbSNP gnomAD v2 |
| 5 | g.151822676C= | CA1591565176 | GLRA1 | c.1347G= (p.Gln449=) c.1371G= (p.Gln457=) c.*1105G= (n.*1105G=) c.1098G= (p.Gln366=) | |
| 5 | g.151822676C>G | CA361849474 | GLRA1 | c.1347G>C (p.Gln449His) c.1371G>C (p.Gln457His) c.*1105G>C (n.*1105G>C) c.1098G>C (p.Gln366His) | dbSNP |
| 5 | g.151822676C>T | CA447226510 | GLRA1 | c.1347G>A (p.Gln449=) c.1371G>A (p.Gln457=) c.*1105G>A (n.*1105G>A) c.1098G>A (p.Gln366=) | dbSNP |
| 5 | g.151822676_151822677del | CA2578460268 | GLRA1 | c.1346_1347del (p.Gln449LeufsTer?) c.1370_1371del (p.Gln457LeufsTer?) c.*1104_*1105del (n.*1104_*1105del) c.1097_1098del (p.Gln366LeufsTer?) | |
| 5 | g.151822677T>A | CA361849483 | GLRA1 | c.1346A>T (p.Gln449Leu) c.1370A>T (p.Gln457Leu) c.*1104A>T (n.*1104A>T) c.1097A>T (p.Gln366Leu) | |
| 5 | g.151822677T>C | CA361849485 | GLRA1 | c.1346A>G (p.Gln449Arg) c.1370A>G (p.Gln457Arg) c.*1104A>G (n.*1104A>G) c.1097A>G (p.Gln366Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822677T>G | CA361849487 | GLRA1 | c.1346A>C (p.Gln449Pro) c.1370A>C (p.Gln457Pro) c.*1104A>C (n.*1104A>C) c.1097A>C (p.Gln366Pro) | |
| 5 | g.151822677T= | CA1591565177 | GLRA1 | c.1346A= (p.Gln449=) c.1370A= (p.Gln457=) c.*1104A= (n.*1104A=) c.1097A= (p.Gln366=) | |
| 5 | g.151822678G>A | CA361849491 | GLRA1 | c.1345C>T (p.Gln449Ter) c.1369C>T (p.Gln457Ter) c.*1103C>T (n.*1103C>T) c.1096C>T (p.Gln366Ter) | |
| 5 | g.151822678G>C | CA361849493 | GLRA1 | c.1345C>G (p.Gln449Glu) c.1369C>G (p.Gln457Glu) c.*1103C>G (n.*1103C>G) c.1096C>G (p.Gln366Glu) | |
| 5 | g.151822678G>T | CA361849495 | GLRA1 | c.1345C>A (p.Gln449Lys) c.1369C>A (p.Gln457Lys) c.*1103C>A (n.*1103C>A) c.1096C>A (p.Gln366Lys) | |
| 5 | g.151822679del | CA2578460269 | GLRA1 | c.1345del (p.Gln449SerfsTer22) c.1369del (p.Gln457SerfsTer?) c.*1103del (n.*1103del) c.1369del (p.Gln457SerfsTer22) c.1096del (p.Gln366SerfsTer22) | |
| 5 | g.151822679G>A | CA447226511 | GLRA1 | c.1344C>T (p.Asn448=) c.1368C>T (p.Asn456=) c.*1102C>T (n.*1102C>T) c.1095C>T (p.Asn365=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822679G>C | CA361849497 | GLRA1 | c.1344C>G (p.Asn448Lys) c.1368C>G (p.Asn456Lys) c.*1102C>G (n.*1102C>G) c.1095C>G (p.Asn365Lys) | COSMIC |
| 5 | g.151822679G= | CA1591565178 | GLRA1 | c.1344C= (p.Asn448=) c.1368C= (p.Asn456=) c.*1102C= (n.*1102C=) c.1095C= (p.Asn365=) | |
| 5 | g.151822679G>T | CA361849498 | GLRA1 | c.1344C>A (p.Asn448Lys) c.1368C>A (p.Asn456Lys) c.*1102C>A (n.*1102C>A) c.1095C>A (p.Asn365Lys) | |
| 5 | g.151822680T>A | CA361849501 | GLRA1 | c.1343A>T (p.Asn448Ile) c.1367A>T (p.Asn456Ile) c.*1101A>T (n.*1101A>T) c.1094A>T (p.Asn365Ile) | |
| 5 | g.151822680T>C | CA361849503 | GLRA1 | c.1343A>G (p.Asn448Ser) c.1367A>G (p.Asn456Ser) c.*1101A>G (n.*1101A>G) c.1094A>G (p.Asn365Ser) | |
| 5 | g.151822680T>G | CA361849505 | GLRA1 | c.1343A>C (p.Asn448Thr) c.1367A>C (p.Asn456Thr) c.*1101A>C (n.*1101A>C) c.1094A>C (p.Asn365Thr) | |
| 5 | g.151822681T>A | CA361849513 | GLRA1 | c.1342A>T (p.Asn448Tyr) c.1366A>T (p.Asn456Tyr) c.*1100A>T (n.*1100A>T) c.1093A>T (p.Asn365Tyr) | |
| 5 | g.151822681T>C | CA361849510 | GLRA1 | c.1342A>G (p.Asn448Asp) c.1366A>G (p.Asn456Asp) c.*1100A>G (n.*1100A>G) c.1093A>G (p.Asn365Asp) | |
| 5 | g.151822681T>G | CA361849509 | GLRA1 | c.1342A>C (p.Asn448His) c.1366A>C (p.Asn456His) c.*1100A>C (n.*1100A>C) c.1093A>C (p.Asn365His) | |
| 5 | g.151822682G>A | CA3523450 | GLRA1 | c.1341C>T (p.His447=) c.1365C>T (p.His455=) c.*1099C>T (n.*1099C>T) c.1092C>T (p.His364=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822682G>C | CA361849519 | GLRA1 | c.1341C>G (p.His447Gln) c.1365C>G (p.His455Gln) c.*1099C>G (n.*1099C>G) c.1092C>G (p.His364Gln) | |
| 5 | g.151822682G= | CA1591565179 | GLRA1 | c.1341C= (p.His447=) c.1365C= (p.His455=) c.*1099C= (n.*1099C=) c.1092C= (p.His364=) | |
| 5 | g.151822682G>T | CA3523451 | GLRA1 | c.1341C>A (p.His447Gln) c.1365C>A (p.His455Gln) c.*1099C>A (n.*1099C>A) c.1092C>A (p.His364Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822683T>A | CA361849524 | GLRA1 | c.1340A>T (p.His447Leu) c.1364A>T (p.His455Leu) c.*1098A>T (n.*1098A>T) c.1091A>T (p.His364Leu) | |
| 5 | g.151822683T>C | CA361849525 | GLRA1 | c.1340A>G (p.His447Arg) c.1364A>G (p.His455Arg) c.*1098A>G (n.*1098A>G) c.1091A>G (p.His364Arg) | |
| 5 | g.151822683T>G | CA361849528 | GLRA1 | c.1340A>C (p.His447Pro) c.1364A>C (p.His455Pro) c.*1098A>C (n.*1098A>C) c.1091A>C (p.His364Pro) | |
| 5 | g.151822684G>A | CA361849531 | GLRA1 | c.1339C>T (p.His447Tyr) c.1363C>T (p.His455Tyr) c.*1097C>T (n.*1097C>T) c.1090C>T (p.His364Tyr) | |
| 5 | g.151822684G>C | CA361849534 | GLRA1 | c.1339C>G (p.His447Asp) c.1363C>G (p.His455Asp) c.*1097C>G (n.*1097C>G) c.1090C>G (p.His364Asp) | |
| 5 | g.151822684G= | CA1591565180 | GLRA1 | c.1339C= (p.His447=) c.1363C= (p.His455=) c.*1097C= (n.*1097C=) c.1090C= (p.His364=) | |
| 5 | g.151822684G>T | CA3523452 | GLRA1 | c.1339C>A (p.His447Asn) c.1363C>A (p.His455Asn) c.*1097C>A (n.*1097C>A) c.1090C>A (p.His364Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822685G>A | CA447226514 | GLRA1 | c.1338C>T (p.Val446=) c.1362C>T (p.Val454=) c.*1096C>T (n.*1096C>T) c.1089C>T (p.Val363=) | |
| 5 | g.151822685G>C | CA447226513 | GLRA1 | c.1338C>G (p.Val446=) c.1362C>G (p.Val454=) c.*1096C>G (n.*1096C>G) c.1089C>G (p.Val363=) | |
| 5 | g.151822685G>T | CA447226512 | GLRA1 | c.1338C>A (p.Val446=) c.1362C>A (p.Val454=) c.*1096C>A (n.*1096C>A) c.1089C>A (p.Val363=) | |
| 5 | g.151822686A= | CA1591565181 | GLRA1 | c.1337T= (p.Val446=) c.1361T= (p.Val454=) c.*1095T= (n.*1095T=) c.1088T= (p.Val363=) | |
| 5 | g.151822686A>C | CA361849539 | GLRA1 | c.1337T>G (p.Val446Gly) c.1361T>G (p.Val454Gly) c.*1095T>G (n.*1095T>G) c.1088T>G (p.Val363Gly) | |
| 5 | g.151822686A>G | CA3523453 | GLRA1 | c.1337T>C (p.Val446Ala) c.1361T>C (p.Val454Ala) c.*1095T>C (n.*1095T>C) c.1088T>C (p.Val363Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822686A>T | CA361849544 | GLRA1 | c.1337T>A (p.Val446Asp) c.1361T>A (p.Val454Asp) c.*1095T>A (n.*1095T>A) c.1088T>A (p.Val363Asp) | |
| 5 | g.151822687C>A | CA361849551 | GLRA1 | c.1336G>T (p.Val446Phe) c.1360G>T (p.Val454Phe) c.*1094G>T (n.*1094G>T) c.1087G>T (p.Val363Phe) | dbSNP |
| 5 | g.151822687C= | CA1591565182 | GLRA1 | c.1336G= (p.Val446=) c.1360G= (p.Val454=) c.*1094G= (n.*1094G=) c.1087G= (p.Val363=) | |
| 5 | g.151822687C>G | CA361849548 | GLRA1 | c.1336G>C (p.Val446Leu) c.1360G>C (p.Val454Leu) c.*1094G>C (n.*1094G>C) c.1087G>C (p.Val363Leu) | |
| 5 | g.151822687C>T | CA3523454 | GLRA1 | c.1336G>A (p.Val446Ile) c.1360G>A (p.Val454Ile) c.*1094G>A (n.*1094G>A) c.1087G>A (p.Val363Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822688G>A | CA3523455 | GLRA1 | c.1335C>T (p.Asp445=) c.1359C>T (p.Asp453=) c.*1093C>T (n.*1093C>T) c.1086C>T (p.Asp362=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822688G>C | CA361849555 | GLRA1 | c.1335C>G (p.Asp445Glu) c.1359C>G (p.Asp453Glu) c.*1093C>G (n.*1093C>G) c.1086C>G (p.Asp362Glu) | gnomAD v4 |
| 5 | g.151822688G= | CA1591565183 | GLRA1 | c.1335C= (p.Asp445=) c.1359C= (p.Asp453=) c.*1093C= (n.*1093C=) c.1086C= (p.Asp362=) | |
| 5 | g.151822688G>T | CA361849557 | GLRA1 | c.1335C>A (p.Asp445Glu) c.1359C>A (p.Asp453Glu) c.*1093C>A (n.*1093C>A) c.1086C>A (p.Asp362Glu) | gnomAD v4 |
| 5 | g.151822689T>A | CA361849560 | GLRA1 | c.1334A>T (p.Asp445Val) c.1358A>T (p.Asp453Val) c.*1092A>T (n.*1092A>T) c.1085A>T (p.Asp362Val) | |
| 5 | g.151822689T>C | CA361849561 | GLRA1 | c.1334A>G (p.Asp445Gly) c.1358A>G (p.Asp453Gly) c.*1092A>G (n.*1092A>G) c.1085A>G (p.Asp362Gly) | |
| 5 | g.151822689T>G | CA361849563 | GLRA1 | c.1334A>C (p.Asp445Ala) c.1358A>C (p.Asp453Ala) c.*1092A>C (n.*1092A>C) c.1085A>C (p.Asp362Ala) | |
| 5 | g.151822690C>A | CA10621011 | GLRA1 | c.1333G>T (p.Asp445Tyr) c.1357G>T (p.Asp453Tyr) c.*1091G>T (n.*1091G>T) c.1084G>T (p.Asp362Tyr) | ClinVar dbSNP |
| 5 | g.151822690C= | CA1591565184 | GLRA1 | c.1333G= (p.Asp445=) c.1357G= (p.Asp453=) c.*1091G= (n.*1091G=) c.1084G= (p.Asp362=) | |
| 5 | g.151822690C>G | CA361849567 | GLRA1 | c.1333G>C (p.Asp445His) c.1357G>C (p.Asp453His) c.*1091G>C (n.*1091G>C) c.1084G>C (p.Asp362His) | |
| 5 | g.151822690C>T | CA361849569 | GLRA1 | c.1333G>A (p.Asp445Asn) c.1357G>A (p.Asp453Asn) c.*1091G>A (n.*1091G>A) c.1084G>A (p.Asp362Asn) | dbSNP gnomAD v4 |
| 5 | g.151822691C>A | CA361849572 | GLRA1 | c.1332G>T (p.Glu444Asp) c.1356G>T (p.Glu452Asp) c.*1090G>T (n.*1090G>T) c.1083G>T (p.Glu361Asp) | |
| 5 | g.151822691C>G | CA361849574 | GLRA1 | c.1332G>C (p.Glu444Asp) c.1356G>C (p.Glu452Asp) c.*1090G>C (n.*1090G>C) c.1083G>C (p.Glu361Asp) | gnomAD v4 |
| 5 | g.151822691C>T | CA447226515 | GLRA1 | c.1332G>A (p.Glu444=) c.1356G>A (p.Glu452=) c.*1090G>A (n.*1090G>A) c.1083G>A (p.Glu361=) | gnomAD v4 |
| 5 | g.151822695_151822696del | CA2676107428 | GLRA1 | c.1331_1332del (p.Glu444GlyfsTer?) c.1355_1356del (p.Glu452GlyfsTer?) c.*1089_*1090del (n.*1089_*1090del) c.1082_1083del (p.Glu361GlyfsTer?) | gnomAD v4 |
| 5 | g.151822692T>A | CA361849576 | GLRA1 | c.1331A>T (p.Glu444Val) c.1355A>T (p.Glu452Val) c.*1089A>T (n.*1089A>T) c.1082A>T (p.Glu361Val) | |
| 5 | g.151822692T>C | CA3523456 | GLRA1 | c.1331A>G (p.Glu444Gly) c.1355A>G (p.Glu452Gly) c.*1089A>G (n.*1089A>G) c.1082A>G (p.Glu361Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822692T>G | CA361849579 | GLRA1 | c.1331A>C (p.Glu444Ala) c.1355A>C (p.Glu452Ala) c.*1089A>C (n.*1089A>C) c.1082A>C (p.Glu361Ala) | |
| 5 | g.151822692T= | CA1591565185 | GLRA1 | c.1331A= (p.Glu444=) c.1355A= (p.Glu452=) c.*1089A= (n.*1089A=) c.1082A= (p.Glu361=) | |
| 5 | g.151822693C>A | CA361849581 | GLRA1 | c.1330G>T (p.Glu444Ter) c.1354G>T (p.Glu452Ter) c.*1088G>T (n.*1088G>T) c.1081G>T (p.Glu361Ter) | |
| 5 | g.151822693C= | CA1591565187 | GLRA1 | c.1330G= (p.Glu444=) c.1354G= (p.Glu452=) c.*1088G= (n.*1088G=) c.1081G= (p.Glu361=) | |
| 5 | g.151822693C>G | CA361849583 | GLRA1 | c.1330G>C (p.Glu444Gln) c.1354G>C (p.Glu452Gln) c.*1088G>C (n.*1088G>C) c.1081G>C (p.Glu361Gln) | |
| 5 | g.151822693C>T | CA361849582 | GLRA1 | c.1330G>A (p.Glu444Lys) c.1354G>A (p.Glu452Lys) c.*1088G>A (n.*1088G>A) c.1081G>A (p.Glu361Lys) | dbSNP |
| 5 | g.151822693_151822707delinsCTCTACGGACAATCT | CA1591565186 | GLRA1 | c.1316_1330delinsAGATTGTCCGTAGAG (p.Lys439=) c.1340_1354delinsAGATTGTCCGTAGAG (p.Lys447=) c.*1074_*1088delinsAGATTGTCCGTAGAG (n.*1074_*1088delinsAGATTGTCCGTAGAG) c.1067_1081delinsAGATTGTCCGTAGAG (p.Lys356=) | |
| 5 | g.151822694T>A | CA361849584 | GLRA1 | c.1329A>T (p.Arg443Ser) c.1353A>T (p.Arg451Ser) c.*1087A>T (n.*1087A>T) c.1080A>T (p.Arg360Ser) | |
| 5 | g.151822694T>C | CA447226516 | GLRA1 | c.1329A>G (p.Arg443=) c.1353A>G (p.Arg451=) c.*1087A>G (n.*1087A>G) c.1080A>G (p.Arg360=) | |
| 5 | g.151822694T>G | CA361849585 | GLRA1 | c.1329A>C (p.Arg443Ser) c.1353A>C (p.Arg451Ser) c.*1087A>C (n.*1087A>C) c.1080A>C (p.Arg360Ser) | |
| 5 | g.151822695_151822708del | CA3523457 | GLRA1 | c.1316_1329del (p.Lys439ArgfsTer?) c.1340_1353del (p.Lys447ArgfsTer?) c.*1074_*1087del (n.*1074_*1087del) c.1067_1080del (p.Lys356ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822695C>A | CA361849586 | GLRA1 | c.1328G>T (p.Arg443Ile) c.1352G>T (p.Arg451Ile) c.*1086G>T (n.*1086G>T) c.1079G>T (p.Arg360Ile) | |
| 5 | g.151822695C= | CA1591565188 | GLRA1 | c.1328G= (p.Arg443=) c.1352G= (p.Arg451=) c.*1086G= (n.*1086G=) c.1079G= (p.Arg360=) | |
| 5 | g.151822695C>G | CA361849587 | GLRA1 | c.1328G>C (p.Arg443Thr) c.1352G>C (p.Arg451Thr) c.*1086G>C (n.*1086G>C) c.1079G>C (p.Arg360Thr) | gnomAD v4 |
| 5 | g.151822695C>T | CA361849589 | GLRA1 | c.1328G>A (p.Arg443Lys) c.1352G>A (p.Arg451Lys) c.*1086G>A (n.*1086G>A) c.1079G>A (p.Arg360Lys) | dbSNP gnomAD v4 |
| 5 | g.151822696T>A | CA361849591 | GLRA1 | c.1327A>T (p.Arg443Ter) c.1351A>T (p.Arg451Ter) c.*1085A>T (n.*1085A>T) c.1078A>T (p.Arg360Ter) | |
| 5 | g.151822696T>C | CA361849594 | GLRA1 | c.1327A>G (p.Arg443Gly) c.1351A>G (p.Arg451Gly) c.*1085A>G (n.*1085A>G) c.1078A>G (p.Arg360Gly) | |
| 5 | g.151822696T>G | CA447226517 | GLRA1 | c.1327A>C (p.Arg443=) c.1351A>C (p.Arg451=) c.*1085A>C (n.*1085A>C) c.1078A>C (p.Arg360=) | |
| 5 | g.151822697A= | CA1591565189 | GLRA1 | c.1326T= (p.Arg442=) c.1350T= (p.Arg450=) c.*1084T= (n.*1084T=) c.1077T= (p.Arg359=) | |
| 5 | g.151822697A>C | CA447226518 | GLRA1 | c.1326T>G (p.Arg442=) c.1350T>G (p.Arg450=) c.*1084T>G (n.*1084T>G) c.1077T>G (p.Arg359=) | |
| 5 | g.151822697A>G | CA3523458 | GLRA1 | c.1326T>C (p.Arg442=) c.1350T>C (p.Arg450=) c.*1084T>C (n.*1084T>C) c.1077T>C (p.Arg359=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822697A>T | CA447226519 | GLRA1 | c.1326T>A (p.Arg442=) c.1350T>A (p.Arg450=) c.*1084T>A (n.*1084T>A) c.1077T>A (p.Arg359=) | |
| 5 | g.151822698C>A | CA361849597 | GLRA1 | c.1325G>T (p.Arg442Leu) c.1349G>T (p.Arg450Leu) c.*1083G>T (n.*1083G>T) c.1076G>T (p.Arg359Leu) | |
| 5 | g.151822698C= | CA1591565190 | GLRA1 | c.1325G= (p.Arg442=) c.1349G= (p.Arg450=) c.*1083G= (n.*1083G=) c.1076G= (p.Arg359=) | |
| 5 | g.151822698C>G | CA361849599 | GLRA1 | c.1325G>C (p.Arg442Pro) c.1349G>C (p.Arg450Pro) c.*1083G>C (n.*1083G>C) c.1076G>C (p.Arg359Pro) | |
| 5 | g.151822698C>T | CA3523459 | GLRA1 | c.1325G>A (p.Arg442His) c.1349G>A (p.Arg450His) c.*1083G>A (n.*1083G>A) c.1076G>A (p.Arg359His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822699G>A | CA361849602 | GLRA1 | c.1324C>T (p.Arg442Cys) c.1348C>T (p.Arg450Cys) c.*1082C>T (n.*1082C>T) c.1075C>T (p.Arg359Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822699G>C | CA3523460 | GLRA1 | c.1324C>G (p.Arg442Gly) c.1348C>G (p.Arg450Gly) c.*1082C>G (n.*1082C>G) c.1075C>G (p.Arg359Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822699G= | CA1591565191 | GLRA1 | c.1324C= (p.Arg442=) c.1348C= (p.Arg450=) c.*1082C= (n.*1082C=) c.1075C= (p.Arg359=) | |
| 5 | g.151822699G>T | CA361849601 | GLRA1 | c.1324C>A (p.Arg442Ser) c.1348C>A (p.Arg450Ser) c.*1082C>A (n.*1082C>A) c.1075C>A (p.Arg359Ser) | gnomAD v4 |
| 5 | g.151822699_151822700insTAGG | CA805721755 | GLRA1 | c.1324_1325insCTAC (p.Arg442ProfsTer3) c.1348_1349insCTAC (p.Arg450ProfsTer3) c.*1082_*1083insCTAC (n.*1082_*1083insCTAC) c.1075_1076insCTAC (p.Arg359ProfsTer3) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822700G>A | CA447226520 | GLRA1 | c.1323C>T (p.Val441=) c.1347C>T (p.Val449=) c.*1081C>T (n.*1081C>T) c.1074C>T (p.Val358=) | |
| 5 | g.151822700G>C | CA447226521 | GLRA1 | c.1323C>G (p.Val441=) c.1347C>G (p.Val449=) c.*1081C>G (n.*1081C>G) c.1074C>G (p.Val358=) | |
| 5 | g.151822700G>T | CA447226522 | GLRA1 | c.1323C>A (p.Val441=) c.1347C>A (p.Val449=) c.*1081C>A (n.*1081C>A) c.1074C>A (p.Val358=) | |
| 5 | g.151822701A= | CA1591565192 | GLRA1 | c.1322T= (p.Val441=) c.1346T= (p.Val449=) c.*1080T= (n.*1080T=) c.1073T= (p.Val358=) | |
| 5 | g.151822701A>C | CA361849609 | GLRA1 | c.1322T>G (p.Val441Gly) c.1346T>G (p.Val449Gly) c.*1080T>G (n.*1080T>G) c.1073T>G (p.Val358Gly) | |
| 5 | g.151822701A>G | CA361849604 | GLRA1 | c.1322T>C (p.Val441Ala) c.1346T>C (p.Val449Ala) c.*1080T>C (n.*1080T>C) c.1073T>C (p.Val358Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822701A>T | CA361849607 | GLRA1 | c.1322T>A (p.Val441Asp) c.1346T>A (p.Val449Asp) c.*1080T>A (n.*1080T>A) c.1073T>A (p.Val358Asp) | |
| 5 | g.151822702C>A | CA361849612 | GLRA1 | c.1321G>T (p.Val441Phe) c.1345G>T (p.Val449Phe) c.*1079G>T (n.*1079G>T) c.1072G>T (p.Val358Phe) | |
| 5 | g.151822702C= | CA1591565193 | GLRA1 | c.1321G= (p.Val441=) c.1345G= (p.Val449=) c.*1079G= (n.*1079G=) c.1072G= (p.Val358=) | |
| 5 | g.151822702C>G | CA361849615 | GLRA1 | c.1321G>C (p.Val441Leu) c.1345G>C (p.Val449Leu) c.*1079G>C (n.*1079G>C) c.1072G>C (p.Val358Leu) | |
| 5 | g.151822702C>T | CA130006119 | GLRA1 | c.1321G>A (p.Val441Ile) c.1345G>A (p.Val449Ile) c.*1079G>A (n.*1079G>A) c.1072G>A (p.Val358Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822702_151822703delinsCA | CA1591565194 | GLRA1 | c.1320_1321delinsTG (p.Ile440=) c.1344_1345delinsTG (p.Ile448=) c.*1078_*1079delinsTG (n.*1078_*1079delinsTG) c.1071_1072delinsTG (p.Ile357=) | |
| 5 | g.151822703A= | CA1591565195 | GLRA1 | c.1320T= (p.Ile440=) c.1344T= (p.Ile448=) c.*1078T= (n.*1078T=) c.1071T= (p.Ile357=) | |
| 5 | g.151822703A>C | CA361849618 | GLRA1 | c.1320T>G (p.Ile440Met) c.1344T>G (p.Ile448Met) c.*1078T>G (n.*1078T>G) c.1071T>G (p.Ile357Met) | |
| 5 | g.151822703A>G | CA447226524 | GLRA1 | c.1320T>C (p.Ile440=) c.1344T>C (p.Ile448=) c.*1078T>C (n.*1078T>C) c.1071T>C (p.Ile357=) | dbSNP |
| 5 | g.151822703A>T | CA447226523 | GLRA1 | c.1320T>A (p.Ile440=) c.1344T>A (p.Ile448=) c.*1078T>A (n.*1078T>A) c.1071T>A (p.Ile357=) | |
| 5 | g.151822704del | CA563632961 | GLRA1 | c.1320del (p.Ile440MetfsTer?) c.1344del (p.Ile448MetfsTer?) c.*1078del (n.*1078del) c.1071del (p.Ile357MetfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822704A= | CA1591565196 | GLRA1 | c.1319T= (p.Ile440=) c.1343T= (p.Ile448=) c.*1077T= (n.*1077T=) c.1070T= (p.Ile357=) | |
| 5 | g.151822704A>C | CA361849624 | GLRA1 | c.1319T>G (p.Ile440Ser) c.1343T>G (p.Ile448Ser) c.*1077T>G (n.*1077T>G) c.1070T>G (p.Ile357Ser) | gnomAD v4 |
| 5 | g.151822704A>G | CA3523461 | GLRA1 | c.1319T>C (p.Ile440Thr) c.1343T>C (p.Ile448Thr) c.*1077T>C (n.*1077T>C) c.1070T>C (p.Ile357Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822704A>T | CA361849622 | GLRA1 | c.1319T>A (p.Ile440Asn) c.1343T>A (p.Ile448Asn) c.*1077T>A (n.*1077T>A) c.1070T>A (p.Ile357Asn) | |
| 5 | g.151822705T>A | CA361849627 | GLRA1 | c.1318A>T (p.Ile440Phe) c.1342A>T (p.Ile448Phe) c.*1076A>T (n.*1076A>T) c.1069A>T (p.Ile357Phe) | |
| 5 | g.151822705T>C | CA361849628 | GLRA1 | c.1318A>G (p.Ile440Val) c.1342A>G (p.Ile448Val) c.*1076A>G (n.*1076A>G) c.1069A>G (p.Ile357Val) | |
| 5 | g.151822705T>G | CA361849629 | GLRA1 | c.1318A>C (p.Ile440Leu) c.1342A>C (p.Ile448Leu) c.*1076A>C (n.*1076A>C) c.1069A>C (p.Ile357Leu) | |
| 5 | g.151822706C>A | CA361849631 | GLRA1 | c.1317G>T (p.Lys439Asn) c.1341G>T (p.Lys447Asn) c.*1075G>T (n.*1075G>T) c.1068G>T (p.Lys356Asn) | |
| 5 | g.151822706C>G | CA361849633 | GLRA1 | c.1317G>C (p.Lys439Asn) c.1341G>C (p.Lys447Asn) c.*1075G>C (n.*1075G>C) c.1068G>C (p.Lys356Asn) | COSMIC |
| 5 | g.151822706C>T | CA447226525 | GLRA1 | c.1317G>A (p.Lys439=) c.1341G>A (p.Lys447=) c.*1075G>A (n.*1075G>A) c.1068G>A (p.Lys356=) | |
| 5 | g.151822707T>A | CA361849664 | GLRA1 | c.1316A>T (p.Lys439Met) c.1340A>T (p.Lys447Met) c.*1074A>T (n.*1074A>T) c.1067A>T (p.Lys356Met) | |
| 5 | g.151822707T>C | CA361849658 | GLRA1 | c.1316A>G (p.Lys439Arg) c.1340A>G (p.Lys447Arg) c.*1074A>G (n.*1074A>G) c.1067A>G (p.Lys356Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822707T>G | CA361849662 | GLRA1 | c.1316A>C (p.Lys439Thr) c.1340A>C (p.Lys447Thr) c.*1074A>C (n.*1074A>C) c.1067A>C (p.Lys356Thr) | |
| 5 | g.151822707T= | CA1591565197 | GLRA1 | c.1316A= (p.Lys439=) c.1340A= (p.Lys447=) c.*1074A= (n.*1074A=) c.1067A= (p.Lys356=) | |
| 5 | g.151822708T>A | CA361849666 | GLRA1 | c.1315A>T (p.Lys439Ter) c.1339A>T (p.Lys447Ter) c.*1073A>T (n.*1073A>T) c.1066A>T (p.Lys356Ter) | |
| 5 | g.151822708T>C | CA130006136 | GLRA1 | c.1315A>G (p.Lys439Glu) c.1339A>G (p.Lys447Glu) c.*1073A>G (n.*1073A>G) c.1066A>G (p.Lys356Glu) | dbSNP |
| 5 | g.151822708T>G | CA130006137 | GLRA1 | c.1315A>C (p.Lys439Gln) c.1339A>C (p.Lys447Gln) c.*1073A>C (n.*1073A>C) c.1066A>C (p.Lys356Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822708T= | CA1591565198 | GLRA1 | c.1315A= (p.Lys439=) c.1339A= (p.Lys447=) c.*1073A= (n.*1073A=) c.1066A= (p.Lys356=) | |
| 5 | g.151822709G>A | CA447226526 | GLRA1 | c.1314C>T (p.Tyr438=) c.1338C>T (p.Tyr446=) c.*1072C>T (n.*1072C>T) c.1065C>T (p.Tyr355=) | |
| 5 | g.151822709G>C | CA361849672 | GLRA1 | c.1314C>G (p.Tyr438Ter) c.1338C>G (p.Tyr446Ter) c.*1072C>G (n.*1072C>G) c.1065C>G (p.Tyr355Ter) | |
| 5 | g.151822709G>T | CA361849675 | GLRA1 | c.1314C>A (p.Tyr438Ter) c.1338C>A (p.Tyr446Ter) c.*1072C>A (n.*1072C>A) c.1065C>A (p.Tyr355Ter) | |
| 5 | g.151822710T>A | CA361849677 | GLRA1 | c.1313A>T (p.Tyr438Phe) c.1337A>T (p.Tyr446Phe) c.*1071A>T (n.*1071A>T) c.1064A>T (p.Tyr355Phe) | |
| 5 | g.151822710T>C | CA361849678 | GLRA1 | c.1313A>G (p.Tyr438Cys) c.1337A>G (p.Tyr446Cys) c.*1071A>G (n.*1071A>G) c.1064A>G (p.Tyr355Cys) | ClinVar |
| 5 | g.151822710T>G | CA361849680 | GLRA1 | c.1313A>C (p.Tyr438Ser) c.1337A>C (p.Tyr446Ser) c.*1071A>C (n.*1071A>C) c.1064A>C (p.Tyr355Ser) | |
| 5 | g.151822711A= | CA1591565199 | GLRA1 | c.1312T= (p.Tyr438=) c.1336T= (p.Tyr446=) c.*1070T= (n.*1070T=) c.1063T= (p.Tyr355=) | |
| 5 | g.151822711A>C | CA361849684 | GLRA1 | c.1312T>G (p.Tyr438Asp) c.1336T>G (p.Tyr446Asp) c.*1070T>G (n.*1070T>G) c.1063T>G (p.Tyr355Asp) | |
| 5 | g.151822711A>G | CA361849686 | GLRA1 | c.1312T>C (p.Tyr438His) c.1336T>C (p.Tyr446His) c.*1070T>C (n.*1070T>C) c.1063T>C (p.Tyr355His) | gnomAD v4 |
| 5 | g.151822711A>T | CA361849688 | GLRA1 | c.1312T>A (p.Tyr438Asn) c.1336T>A (p.Tyr446Asn) c.*1070T>A (n.*1070T>A) c.1063T>A (p.Tyr355Asn) | dbSNP |
| 5 | g.151822712G>A | CA447226527 | GLRA1 | c.1311C>T (p.Ile437=) c.1335C>T (p.Ile445=) c.*1069C>T (n.*1069C>T) c.1062C>T (p.Ile354=) | |
| 5 | g.151822712G>C | CA361849691 | GLRA1 | c.1311C>G (p.Ile437Met) c.1335C>G (p.Ile445Met) c.*1069C>G (n.*1069C>G) c.1062C>G (p.Ile354Met) | |
| 5 | g.151822712G>T | CA447226528 | GLRA1 | c.1311C>A (p.Ile437=) c.1335C>A (p.Ile445=) c.*1069C>A (n.*1069C>A) c.1062C>A (p.Ile354=) | |
| 5 | g.151822713A= | CA1591565200 | GLRA1 | c.1310T= (p.Ile437=) c.1334T= (p.Ile445=) c.*1068T= (n.*1068T=) c.1061T= (p.Ile354=) | |
| 5 | g.151822713A>C | CA361849694 | GLRA1 | c.1310T>G (p.Ile437Ser) c.1334T>G (p.Ile445Ser) c.*1068T>G (n.*1068T>G) c.1061T>G (p.Ile354Ser) | |
| 5 | g.151822713A>G | CA361849696 | GLRA1 | c.1310T>C (p.Ile437Thr) c.1334T>C (p.Ile445Thr) c.*1068T>C (n.*1068T>C) c.1061T>C (p.Ile354Thr) | gnomAD v4 |
| 5 | g.151822713A>T | CA361849695 | GLRA1 | c.1310T>A (p.Ile437Asn) c.1334T>A (p.Ile445Asn) c.*1068T>A (n.*1068T>A) c.1061T>A (p.Ile354Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822714T>A | CA3523462 | GLRA1 | c.1309A>T (p.Ile437Phe) c.1333A>T (p.Ile445Phe) c.*1067A>T (n.*1067A>T) c.1060A>T (p.Ile354Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822714T>C | CA361849697 | GLRA1 | c.1309A>G (p.Ile437Val) c.1333A>G (p.Ile445Val) c.*1067A>G (n.*1067A>G) c.1060A>G (p.Ile354Val) | gnomAD v4 |
| 5 | g.151822714T>G | CA361849698 | GLRA1 | c.1309A>C (p.Ile437Leu) c.1333A>C (p.Ile445Leu) c.*1067A>C (n.*1067A>C) c.1060A>C (p.Ile354Leu) | |
| 5 | g.151822714T= | CA1591565201 | GLRA1 | c.1309A= (p.Ile437=) c.1333A= (p.Ile445=) c.*1067A= (n.*1067A=) c.1060A= (p.Ile354=) | |
| 5 | g.151822715G>A | CA447226529 | GLRA1 | c.1308C>T (p.Ile436=) c.1332C>T (p.Ile444=) c.*1066C>T (n.*1066C>T) c.1059C>T (p.Ile353=) | |
| 5 | g.151822715G>C | CA361849699 | GLRA1 | c.1308C>G (p.Ile436Met) c.1332C>G (p.Ile444Met) c.*1066C>G (n.*1066C>G) c.1059C>G (p.Ile353Met) | |
| 5 | g.151822715G>T | CA447226530 | GLRA1 | c.1308C>A (p.Ile436=) c.1332C>A (p.Ile444=) c.*1066C>A (n.*1066C>A) c.1059C>A (p.Ile353=) | |
| 5 | g.151822716A>C | CA361849700 | GLRA1 | c.1307T>G (p.Ile436Ser) c.1331T>G (p.Ile444Ser) c.*1065T>G (n.*1065T>G) c.1058T>G (p.Ile353Ser) | |
| 5 | g.151822716A>G | CA361849701 | GLRA1 | c.1307T>C (p.Ile436Thr) c.1331T>C (p.Ile444Thr) c.*1065T>C (n.*1065T>C) c.1058T>C (p.Ile353Thr) | |
| 5 | g.151822716A>T | CA361849702 | GLRA1 | c.1307T>A (p.Ile436Asn) c.1331T>A (p.Ile444Asn) c.*1065T>A (n.*1065T>A) c.1058T>A (p.Ile353Asn) | gnomAD v4 |
| 5 | g.151822717T>A | CA361849703 | GLRA1 | c.1306A>T (p.Ile436Phe) c.1330A>T (p.Ile444Phe) c.*1064A>T (n.*1064A>T) c.1057A>T (p.Ile353Phe) | |
| 5 | g.151822717T>C | CA361849704 | GLRA1 | c.1306A>G (p.Ile436Val) c.1330A>G (p.Ile444Val) c.*1064A>G (n.*1064A>G) c.1057A>G (p.Ile353Val) | |
| 5 | g.151822717T>G | CA361849705 | GLRA1 | c.1306A>C (p.Ile436Leu) c.1330A>C (p.Ile444Leu) c.*1064A>C (n.*1064A>C) c.1057A>C (p.Ile353Leu) | |
| 5 | g.151822718C>A | CA361849706 | GLRA1 | c.1305G>T (p.Trp435Cys) c.1329G>T (p.Trp443Cys) c.*1063G>T (n.*1063G>T) c.1056G>T (p.Trp352Cys) | |
| 5 | g.151822718C>G | CA361849707 | GLRA1 | c.1305G>C (p.Trp435Cys) c.1329G>C (p.Trp443Cys) c.*1063G>C (n.*1063G>C) c.1056G>C (p.Trp352Cys) | |
| 5 | g.151822718C>T | CA361849708 | GLRA1 | c.1305G>A (p.Trp435Ter) c.1329G>A (p.Trp443Ter) c.*1063G>A (n.*1063G>A) c.1056G>A (p.Trp352Ter) | gnomAD v4 |
| 5 | g.151822719C>A | CA361849709 | GLRA1 | c.1304G>T (p.Trp435Leu) c.1328G>T (p.Trp443Leu) c.*1062G>T (n.*1062G>T) c.1055G>T (p.Trp352Leu) | |
| 5 | g.151822719C>G | CA361849711 | GLRA1 | c.1304G>C (p.Trp435Ser) c.1328G>C (p.Trp443Ser) c.*1062G>C (n.*1062G>C) c.1055G>C (p.Trp352Ser) | |
| 5 | g.151822719C>T | CA361849710 | GLRA1 | c.1304G>A (p.Trp435Ter) c.1328G>A (p.Trp443Ter) c.*1062G>A (n.*1062G>A) c.1055G>A (p.Trp352Ter) | |
| 5 | g.151822720A= | CA1591565202 | GLRA1 | c.1303T= (p.Trp435=) c.1327T= (p.Trp443=) c.*1061T= (n.*1061T=) c.1054T= (p.Trp352=) | |
| 5 | g.151822720A>C | CA361849712 | GLRA1 | c.1303T>G (p.Trp435Gly) c.1327T>G (p.Trp443Gly) c.*1061T>G (n.*1061T>G) c.1054T>G (p.Trp352Gly) | |
| 5 | g.151822720A>G | CA3523463 | GLRA1 | c.1303T>C (p.Trp435Arg) c.1327T>C (p.Trp443Arg) c.*1061T>C (n.*1061T>C) c.1054T>C (p.Trp352Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822720A>T | CA361849713 | GLRA1 | c.1303T>A (p.Trp435Arg) c.1327T>A (p.Trp443Arg) c.*1061T>A (n.*1061T>A) c.1054T>A (p.Trp352Arg) | |
| 5 | g.151822721G>A | CA447226531 | GLRA1 | c.1302C>T (p.Tyr434=) c.1326C>T (p.Tyr442=) c.*1060C>T (n.*1060C>T) c.1053C>T (p.Tyr351=) | |
| 5 | g.151822721G>C | CA361849714 | GLRA1 | c.1302C>G (p.Tyr434Ter) c.1326C>G (p.Tyr442Ter) c.*1060C>G (n.*1060C>G) c.1053C>G (p.Tyr351Ter) | |
| 5 | g.151822721G>T | CA361849715 | GLRA1 | c.1302C>A (p.Tyr434Ter) c.1326C>A (p.Tyr442Ter) c.*1060C>A (n.*1060C>A) c.1053C>A (p.Tyr351Ter) | gnomAD v4 |
| 5 | g.151822722T>A | CA361849716 | GLRA1 | c.1301A>T (p.Tyr434Phe) c.1325A>T (p.Tyr442Phe) c.*1059A>T (n.*1059A>T) c.1052A>T (p.Tyr351Phe) | |
| 5 | g.151822722T>C | CA361849717 | GLRA1 | c.1301A>G (p.Tyr434Cys) c.1325A>G (p.Tyr442Cys) c.*1059A>G (n.*1059A>G) c.1052A>G (p.Tyr351Cys) | gnomAD v4 |
| 5 | g.151822722T>G | CA361849718 | GLRA1 | c.1301A>C (p.Tyr434Ser) c.1325A>C (p.Tyr442Ser) c.*1059A>C (n.*1059A>C) c.1052A>C (p.Tyr351Ser) | |
| 5 | g.151822723A>C | CA361849719 | GLRA1 | c.1300T>G (p.Tyr434Asp) c.1324T>G (p.Tyr442Asp) c.*1058T>G (n.*1058T>G) c.1051T>G (p.Tyr351Asp) | gnomAD v4 |
| 5 | g.151822723A>G | CA361849720 | GLRA1 | c.1300T>C (p.Tyr434His) c.1324T>C (p.Tyr442His) c.*1058T>C (n.*1058T>C) c.1051T>C (p.Tyr351His) | |
| 5 | g.151822723A>T | CA361849721 | GLRA1 | c.1300T>A (p.Tyr434Asn) c.1324T>A (p.Tyr442Asn) c.*1058T>A (n.*1058T>A) c.1051T>A (p.Tyr351Asn) | |
| 5 | g.151822724G>A | CA447226532 | GLRA1 | c.1299C>T (p.Phe433=) c.1323C>T (p.Phe441=) c.*1057C>T (n.*1057C>T) c.1050C>T (p.Phe350=) | gnomAD v4 |
| 5 | g.151822724G>C | CA361849723 | GLRA1 | c.1299C>G (p.Phe433Leu) c.1323C>G (p.Phe441Leu) c.*1057C>G (n.*1057C>G) c.1050C>G (p.Phe350Leu) | |
| 5 | g.151822724G>T | CA361849722 | GLRA1 | c.1299C>A (p.Phe433Leu) c.1323C>A (p.Phe441Leu) c.*1057C>A (n.*1057C>A) c.1050C>A (p.Phe350Leu) | |
| 5 | g.151822725A>C | CA361849724 | GLRA1 | c.1298T>G (p.Phe433Cys) c.1322T>G (p.Phe441Cys) c.*1056T>G (n.*1056T>G) c.1049T>G (p.Phe350Cys) | |
| 5 | g.151822725A>G | CA361849726 | GLRA1 | c.1298T>C (p.Phe433Ser) c.1322T>C (p.Phe441Ser) c.*1056T>C (n.*1056T>C) c.1049T>C (p.Phe350Ser) | |
| 5 | g.151822725A>T | CA361849725 | GLRA1 | c.1298T>A (p.Phe433Tyr) c.1322T>A (p.Phe441Tyr) c.*1056T>A (n.*1056T>A) c.1049T>A (p.Phe350Tyr) | |
| 5 | g.151822726A>C | CA361849727 | GLRA1 | c.1297T>G (p.Phe433Val) c.1321T>G (p.Phe441Val) c.*1055T>G (n.*1055T>G) c.1048T>G (p.Phe350Val) | |
| 5 | g.151822726A>G | CA361849728 | GLRA1 | c.1297T>C (p.Phe433Leu) c.1321T>C (p.Phe441Leu) c.*1055T>C (n.*1055T>C) c.1048T>C (p.Phe350Leu) | |
| 5 | g.151822726A>T | CA361849729 | GLRA1 | c.1297T>A (p.Phe433Ile) c.1321T>A (p.Phe441Ile) c.*1055T>A (n.*1055T>A) c.1048T>A (p.Phe350Ile) | |
| 5 | g.151822727C>A | CA3523464 | GLRA1 | c.1296G>T (p.Met432Ile) c.1320G>T (p.Met440Ile) c.*1054G>T (n.*1054G>T) c.1047G>T (p.Met349Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822727C= | CA1591565203 | GLRA1 | c.1296G= (p.Met432=) c.1320G= (p.Met440=) c.*1054G= (n.*1054G=) c.1047G= (p.Met349=) | |
| 5 | g.151822727C>G | CA361849730 | GLRA1 | c.1296G>C (p.Met432Ile) c.1320G>C (p.Met440Ile) c.*1054G>C (n.*1054G>C) c.1047G>C (p.Met349Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822727C>T | CA361849731 | GLRA1 | c.1296G>A (p.Met432Ile) c.1320G>A (p.Met440Ile) c.*1054G>A (n.*1054G>A) c.1047G>A (p.Met349Ile) | gnomAD v4 |
| 5 | g.151822728A= | CA1591565204 | GLRA1 | c.1295T= (p.Met432=) c.1319T= (p.Met440=) c.*1053T= (n.*1053T=) c.1046T= (p.Met349=) | |
| 5 | g.151822728A>C | CA361849734 | GLRA1 | c.1295T>G (p.Met432Arg) c.1319T>G (p.Met440Arg) c.*1053T>G (n.*1053T>G) c.1046T>G (p.Met349Arg) | |
| 5 | g.151822728A>G | CA361849732 | GLRA1 | c.1295T>C (p.Met432Thr) c.1319T>C (p.Met440Thr) c.*1053T>C (n.*1053T>C) c.1046T>C (p.Met349Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822728A>T | CA361849733 | GLRA1 | c.1295T>A (p.Met432Lys) c.1319T>A (p.Met440Lys) c.*1053T>A (n.*1053T>A) c.1046T>A (p.Met349Lys) |